Variant report

Variant	rs7657912
Chromosome Location	chr4:56747193-56747194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:56746834-56747196	IMR90	lung:	n/a	chr4:56747003-56747014
2	CEBPB	chr4:56746837-56747194	HepG2	liver:	n/a	chr4:56747003-56747014
3	CEBPB	chr4:56746838-56747195	K562	blood:	n/a	chr4:56747003-56747014
4	FOXA1	chr4:56747150-56747309	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56738961..56741195-chr4:56745001..56747831,2	K562	blood:

Variant related genes	Relation type
EXOC1	TF binding region
RNU6-652P	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1072799	0.90[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727702	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729456	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734942	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086132	0.90[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086150	0.90[CEU][hapmap];1.00[GIH][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086186	1.00[ASN][1000 genomes]
rs17086254	1.00[ASN][1000 genomes]
rs17728804	0.90[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740755	1.00[ASN][1000 genomes]
rs17742000	1.00[ASN][1000 genomes]
rs17742722	1.00[ASN][1000 genomes]
rs17743071	1.00[ASN][1000 genomes]
rs17797113	1.00[ASN][1000 genomes]
rs17797407	1.00[ASN][1000 genomes]
rs17797571	1.00[ASN][1000 genomes]
rs17797595	1.00[ASN][1000 genomes]
rs17798452	1.00[ASN][1000 genomes]
rs17798872	1.00[ASN][1000 genomes]
rs2899046	1.00[ASN][1000 genomes]
rs2899053	1.00[ASN][1000 genomes]
rs34179097	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184679	1.00[ASN][1000 genomes]
rs35143702	1.00[ASN][1000 genomes]
rs41279543	1.00[ASN][1000 genomes]
rs41280345	1.00[ASN][1000 genomes]
rs55806680	1.00[AFR][1000 genomes]
rs56026480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753870	1.00[ASN][1000 genomes]
rs6814812	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817717	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833480	1.00[ASN][1000 genomes]
rs6845953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848009	0.88[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238326	1.00[AFR][1000 genomes]
rs73238333	1.00[AFR][1000 genomes]
rs73238359	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238365	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238367	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238368	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238369	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238370	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238371	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238372	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238373	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238377	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238379	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238381	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238382	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238383	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748013	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669903	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675287	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675490	0.90[EUR][1000 genomes]
rs7690739	0.90[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698100	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994601	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv879024	chr4:56742205-56786589	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879025	chr4:56742205-56808607	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
3	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
5	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
6	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:56731800-56747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:56732600-56754000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:56733200-56747200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:56733200-56763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:56733600-56763000	Weak transcription	Stomach Mucosa	stomach
13	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
14	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:56734400-56748800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:56734400-56749000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:56734400-56751200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:56734600-56748600	Strong transcription	Primary B cells from cord blood	blood
20	chr4:56734600-56753400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:56735000-56768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:56735400-56750800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:56735600-56747200	Weak transcription	Gastric	stomach
25	chr4:56736000-56762400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
27	chr4:56737400-56747200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:56737600-56763400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:56738000-56747200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:56738000-56771400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:56738200-56747200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:56738200-56747200	Weak transcription	Fetal Intestine Small	intestine
33	chr4:56738200-56747200	Weak transcription	Fetal Stomach	stomach
34	chr4:56738200-56747400	Weak transcription	Pancreas	Pancrea
35	chr4:56739000-56747800	Strong transcription	HSMM	muscle
36	chr4:56739800-56747200	Weak transcription	Ovary	ovary
37	chr4:56739800-56759800	Weak transcription	HMEC	breast
38	chr4:56740000-56748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:56741000-56748200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:56741000-56748600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:56742600-56747200	Weak transcription	Right Ventricle	heart
42	chr4:56742800-56748600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:56742800-56751800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:56743000-56749000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr4:56743400-56747800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:56743400-56751400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:56743400-56752000	Strong transcription	Placenta	Placenta
48	chr4:56743600-56747400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:56743600-56748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:56743600-56748800	Strong transcription	Liver	Liver

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